A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554586



Internal ID327767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45841689..45841740hg38UCSC Ensembl
chr19:46344947..46344998hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723611
Samples
Known GenesSYMPK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554586
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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